Molecular quantitative trait loci
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …
genetics, as much of disease-associated variation is located in non-coding regions with …
3′ UTR heterogeneity and cancer progression
JJ Chan, H Tabatabaeian, Y Tay - Trends in Cell Biology, 2023 - cell.com
The majority of human mRNAs generate alternative 3′ untranslated regions (UTRs)
through various processes, including RNA modifications such as RNA editing, m 6 A …
through various processes, including RNA modifications such as RNA editing, m 6 A …
Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
Long 3′ UTRs predispose neurons to inflammation by promoting immunostimulatory double-stranded RNA formation
Loss of RNA homeostasis underlies numerous neurodegenerative and neuroinflammatory
diseases. However, the molecular mechanisms that trigger neuroinflammation are poorly …
diseases. However, the molecular mechanisms that trigger neuroinflammation are poorly …
Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
A compressed variance component mixed model for detecting QTNs and QTN-by-environment and QTN-by-QTN interactions in genome-wide association studies
M Li, YW Zhang, ZC Zhang, Y Xiang, MH Liu, YH Zhou… - Molecular Plant, 2022 - cell.com
Although genome-wide association studies are widely used to mine genes for quantitative
traits, the effects to be estimated are confounded, and the methodologies for detecting …
traits, the effects to be estimated are confounded, and the methodologies for detecting …
[HTML][HTML] Genome-wide functional screen of 3′ UTR variants uncovers causal variants for human disease and evolution
Summary 3′ untranslated region (3′ UTR) variants are strongly associated with human
traits and diseases, yet few have been causally identified. We developed the massively …
traits and diseases, yet few have been causally identified. We developed the massively …
Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci
K Yamaguchi, K Ishigaki, A Suzuki, Y Tsuchida… - Nature …, 2022 - nature.com
Splicing quantitative trait loci (sQTLs) are one of the major causal mechanisms in genome-
wide association study (GWAS) loci, but their role in disease pathogenesis is poorly …
wide association study (GWAS) loci, but their role in disease pathogenesis is poorly …
Context-specific regulation and function of mRNA alternative polyadenylation
S Mitschka, C Mayr - Nature Reviews Molecular Cell Biology, 2022 - nature.com
Alternative cleavage and polyadenylation (APA) is a widespread mechanism to generate
mRNA isoforms with alternative 3′ untranslated regions (UTRs). The expression of …
mRNA isoforms with alternative 3′ untranslated regions (UTRs). The expression of …
Deep learning of human polyadenylation sites at nucleotide resolution reveals molecular determinants of site usage and relevance in disease
EK Stroup, Z Ji - Nature communications, 2023 - nature.com
The genomic distribution of cleavage and polyadenylation (polyA) sites should be co-
evolutionally optimized with the local gene structure. Otherwise, spurious polyadenylation …
evolutionally optimized with the local gene structure. Otherwise, spurious polyadenylation …